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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Kowarski Syndrome
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Accession:DOID:9003177 term browser browse the term
Synonyms:exact_synonym: BIODEFECTIVE GROWTH HORMONE;   Nanism due to growth hormone qualitative anomaly;   Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin;   Pituitary dwarfism 4;   Pituitary dwarfism with normal immunoreactive growth hormone
 primary_id: MESH:C537505;   RDO:0003356
 alt_id: OMIM:262650
For additional species annotation, visit the Alliance of Genome Resources.


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Kowarski Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO DNA:point mutation:exon:p.D122G (human)
ClinVar Annotator: match by OMIM:262650
ClinVar Annotator: match by term: Kowarski syndrome
ClinVar
OMIM
PMID:8552145 PMID:9152628 PMID:9276733 PMID:12655557 PMID:15001589 PMID:15713716 PMID:17519310 PMID:18160466 PMID:18950677 PMID:26467025 PMID:28492532, PMID:9276733 RGD:1601313 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Kowarski Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            thalamic disease 216
              hypothalamic disease 216
                pituitary gland disease 170
                  hypopituitarism 45
                    isolated growth hormone deficiency 31
                      Kowarski Syndrome 1
paths to the root